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IGF1-mediated human embryonic stem cell self-renewal recapitulates the embryonic niche.
(2020-02-07)
Our understanding of the signalling pathways regulating early human development is limited, despite their fundamental biological importance. Here, we mine transcriptomics datasets to investigate signalling in the human ...
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
(NATURE PORTFOLIO, 2020-07-23)
Intellectual disability (ID) is a heterogeneous clinical entity and includes an excess of males who harbor variants on the X-chromosome (XLID). We report rare FAM50A missense variants in the original Armfield XLID syndrome ...
Perspectives on ENCODE.
(NATURE RESEARCH, 2020-07-30)
The Encylopedia of DNA Elements (ENCODE) Project launched in 2003 with the long-term goal of developing a comprehensive map of functional elements in the human genome. These included genes, biochemical regions associated ...